Canonical Allele Identifier: CA288253152
Gene: CCDC144A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16709142C>A , CM000679.2:g.16709142C>A GRCh38
NC_000017.10:g.16612456C>A , CM000679.1:g.16612456C>A GRCh37
NC_000017.9:g.16553181C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000697416.1:c.1085C>A ENSP00000513304.1:p.Pro362His
ENST00000328495.9:n.29+1600C>A
ENST00000340621.9:c.1082C>A ENSP00000344740.5:p.Pro361His
ENST00000360495.9:c.1085C>A ENSP00000353685.5:p.Pro362His
ENST00000360524.12:c.1085C>A ENSP00000353717.8:p.Pro362His
ENST00000399273.5:c.1085C>A MANE Select ENSP00000382215.1:p.Pro362His
ENST00000428950.2:n.463C>A
ENST00000448331.7:c.1085C>A ENSP00000440655.2:p.Pro362His
ENST00000456009.4:c.1085C>A ENSP00000394201.2:p.Pro362His
NM_014695.2:c.1085C>A NP_055510.1:p.Pro362His
NR_130142.1:n.1161C>A
XM_005256877.2:c.1085C>A XP_005256934.1:p.Pro362His
XM_006721607.2:c.1085C>A XP_006721670.1:p.Pro362His
XM_011524088.1:c.1085C>A XP_011522390.1:p.Pro362His
XM_011524089.1:c.1085C>A XP_011522391.1:p.Pro362His
XM_017025429.2:c.1133C>A XP_016880918.1:p.Pro378His
XM_017025430.1:c.1085C>A XP_016880919.1:p.Pro362His
XM_024451045.1:c.1133C>A XP_024306813.1:p.Pro378His
XM_024451046.1:c.1133C>A XP_024306814.1:p.Pro378His
XR_001752702.1:n.1251C>A
XR_001752703.1:n.1251C>A
XR_001752704.1:n.904+1600C>A
NM_014695.3:c.1085C>A NP_055510.1:p.Pro362His
NR_130142.2:n.1245C>A
NM_001382000.1:c.1085C>A MANE Select NP_001368929.1:p.Pro362His
NR_167766.1:n.1245C>A